GPI

Chr 19q13.11

glucose-6-phosphate isomerase

Aliases:: AMF, NLK
MANE:: ENST00000356487.11

OMIM: 172400 ↗NCBI: 2821 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GPI · P06744

v62025-08-01

Predicted Aligned Error matrix for GPI — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

97.9/ 100

Very high

558 residues

Confidence breakdown

Very high(≥ 90)98%
Confident(70–90)1%
Low(50–70)0%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Rare anaemia
BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hemolytic anemia due to glucophosphate isomerase deficiency
0.83
hereditary spherocytosis
0.28
hereditary disease
0.19
autosomal recessive non-syndromic intellectual disability
0.12
rheumatoid arthritis
0.10
arthritic joint disease
0.09
Arthritis
0.09
malaria
0.08
dehydrated hereditary stomatocytosis
0.07
paroxysmal nocturnal hemoglobinuria
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glucose-6-phosphate isomerase

Isomerase that catalyzes the conversion of alpha-D-glucose-6-phosphate to beta-D-fructose-6-phosphate, the second step in glycolysis, and the reverse reaction in gluconeogenesis, within the cytoplasm (PubMed:28803808). Also shows C2-epimerase activity, interconverting D-glucose-6-phosphate (G6P) and D-mannose-6-phosphate (M6P) (By similarity). Also displays anomerase activity, interconverting alpha and beta-anomeric forms of G6P, D-fructose-6-phosphate and M6P (By similarity). In addition to its metabolic role, this enzyme functions extracellularly as a cytokine: acts as autocrine motility factor (AMF), a secreted angiogenic factor that enhances endothelial cell motility (PubMed:11437381). Functions as neuroleukin, a neurotrophic factor supporting the survival of spinal and sensory neurons (PubMed:11004567, PubMed:3352745). Released by lectin-stimulated T-cells to induce immunoglobulin secretion (PubMed:11004567, PubMed:3352745)